SLC1A3: Solute Carrier Family 1 Member 3 (Glutamate Transporter)
A key regulator of glutamate homeostasis in the central nervous system, associated with neurological disorders and cancer.
Gene Information Card
| Symbol | SLC1A3 |
|---|---|
| Full Name | Solute Carrier Family 1 Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 6507 ncbi.nlm.nih.gov/gene/6507 |
| Ensembl ID | ENSG00000079215 |
| UniProt ID | P43003 |
| OMIM ID | 600111 |
| HGNC ID | 10941 |
| Aliases | EAAT1, GLAST, GLAST1, EA6 |
Description
SLC1A3 encodes the excitatory amino acid transporter 1 (EAAT1), a sodium-dependent glutamate transporter primarily expressed in astrocytes. It clears extracellular glutamate from the synaptic cleft, preventing excitotoxicity and maintaining neurotransmitter homeostasis. Mutations in SLC1A3 are linked to episodic ataxia type 6 and other neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Episodic Ataxia Type 6 (EA6) | Missense mutations (e.g., p.Pro290Arg) impair glutamate transport, leading to cerebellar dysfunction and episodic incoordination. | OMIM #612656; ClinVar |
| Glaucoma | Reduced EAAT1 expression in retinal Müller cells contributes to glutamate excitotoxicity and retinal ganglion cell death. | NCBI Gene; PubMed |
| Glioblastoma | Altered SLC1A3 expression in glioma cells supports tumor growth by modulating glutamate signaling and microenvironment. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 48.2 | High |
| Brain (cortex) | 35.1 | High |
| Retina | 22.8 | Medium |
| Spinal cord | 18.5 | Medium |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 12.4 | Astrocytic origin; moderate expression |
| SH-SY5Y (neuroblastoma) | 3.8 | Low expression |
| HEK 293 (embryonic kidney) | 1.2 | Very low; used for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.869C>G (p.Pro290Arg) | Missense | Rare | Loss of glutamate transport; dominant-negative effect; associated with EA6 |
| c.1292G>A (p.Arg431His) | Missense | Rare | Reduced transporter activity; reported in EA6 |
| c.196G>A (p.Val66Ile) | Missense | Unknown | Likely benign; population frequency <0.01% |
Mutation functional classification
Loss of Function (LOF)
p.Pro290Arg and p.Arg431His reduce or abolish glutamate uptake, leading to excitotoxicity.
Gain of Function (GOF)
Not reported for SLC1A3.
Dominant Negative (DN)
p.Pro290Arg exerts dominant-negative effects by impairing multimer assembly and trafficking.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutamate metabolism and transport (Reactome: R-HSA-210455)
• Neurotransmitter uptake and recycling (KEGG: hsa04724)
• Astrocytic glutamate-glutamine cycle (WikiPathways: WP502)
Protein Summary
EAAT1 (SLC1A3) is a 542-amino acid transmembrane protein with 8-10 helical domains. It couples glutamate transport to the co-transport of three Na+ and one H+ ions, and counter-transport of one K+ ion. The protein forms homotrimers and is localized to astrocytic processes surrounding synapses. Its C-terminal domain regulates trafficking and surface expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC1A3 Knockout HEK293 Cell Line | EDJ-KQ2547 | Human | 6507 | Details Get a Quote |
| SLC1A3 Knockout HCT 116 Cell Line | EDJ-KQ24577 | Human | 6507 | Details Get a Quote |
| SLC1A3 Knockout HeLa Cell Line | EDJ-KQ24578 | Human | 6507 | Details Get a Quote |
| SLC1A3 Knockout A-549 Cell Line | EDJ-KQ62965 | Human | 6507 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
